Canonical Allele Identifier: CA371307715

Gene: CHD7

Linked Data

• dbSNP Id: rs1263339156
• gnomAD v2: 8-61777704-G-A
• gnomAD v4: 8-60865145-G-A
• MyVariant Identifiers: chr8:g.61777704G>A (hg19) ; chr8:g.60865145G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865145G>A , CM000670.2:g.60865145G>A	GRCh38
NC_000008.10:g.61777704G>A , CM000670.1:g.61777704G>A	GRCh37
NC_000008.9:g.61940258G>A	NCBI36
NG_007009.1:g.191366G>A , LRG_176:g.191366G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1382G>A
ENST00000695852.1:n.313G>A
ENST00000695853.1:c.*1265G>A	ENSP00000512218.1:n.*1265G>A
ENST00000423902.7:c.8206G>A MANE Select	ENSP00000392028.1:p.Ala2736Thr
ENST00000423902.6:c.8206G>A	ENSP00000392028.1:p.Ala2736Thr
ENST00000524602.5:c.2059G>A	ENSP00000437061.1:p.Ala687Thr
ENST00000528280.1:n.252G>A
NM_001316690.1:c.2059G>A	NP_001303619.1:p.Ala687Thr
NM_017780.3:c.8206G>A	NP_060250.2:p.Ala2736Thr
XM_011517553.1:c.8296G>A	XP_011515855.1:p.Ala2766Thr
XM_011517554.1:c.8296G>A	XP_011515856.1:p.Ala2766Thr
XM_011517555.1:c.8293G>A	XP_011515857.1:p.Ala2765Thr
XM_011517556.1:c.8074G>A	XP_011515858.1:p.Ala2692Thr
XM_011517557.1:c.6283G>A	XP_011515859.1:p.Ala2095Thr
XM_011517558.1:c.5833G>A	XP_011515860.1:p.Ala1945Thr
XM_011517559.1:c.5041G>A	XP_011515861.1:p.Ala1681Thr
XM_011517553.2:c.8296G>A	XP_011515855.1:p.Ala2766Thr
XM_011517554.3:c.8296G>A	XP_011515856.1:p.Ala2766Thr
XM_011517555.2:c.8293G>A	XP_011515857.1:p.Ala2765Thr
XM_017013612.1:c.8296G>A	XP_016869101.1:p.Ala2766Thr
XM_017013613.1:c.8203G>A	XP_016869102.1:p.Ala2735Thr
NM_017780.4:c.8206G>A MANE Select	NP_060250.2:p.Ala2736Thr